ipl-logo

Essay On Progeria

1153 Words5 Pages
bulb-icon

Recommended: Progeria IN SHORT

This research paper is about the Genetic disease called Progeria. The medical term for Progeria is Hutchinson-Gilford Progeria Syndrome or HGPS. Progeria is caused by a single nucleotide substitution. Progeria cannot be passed down from parent to child. Progeria is caused by random accident during cell division. Progeria affects a protein called Lamin A. Lamin A is encoded by the gene LMNA. LMNA is located on chromosome one. In Progeria, the nuclear envelope does not have the support to maintain its normal shape. Progeria gives all cells a risk at dying prematurely. First, the symptoms of Progeria can be noticed at birth, but often is mistaken for Scleroderma. Scleroderma are essentially post birth skin spots. The main symptoms of Progeria …show more content…

Once your child is diagnosed with Hutchinson Gilford Progeria Syndrome their lifestyle is massively affected. There are many steps every family with a family member with progeria has to take. A few of these steps include keeping your child well hydrated, provide frequent small meals, regular physical activity, custom comfortable shoes, lots of sunscreen, social and educational adaptations (Mayo Clinic). Living with Progeria is definitely a challenge, and it takes overcoming new obstacles everyday. Children with Progeria don’t have decreased learning capabilities as kids that don’t have Progeria. They can stay at the same academic level as someone without it. All the same educational and social aspects stay the same. A good way of improving the life of your child affected with Progeria is to find other families with someone diagnosed with Progeria. This offers someone for your child to connect with, and someone to relate to the same life challenges you face everyday. There is many support groups to help cope with Progeria. In reality, people affected with Progeria only live a lifespan that can be anywhere from 8 years old to 21 years old (APA). It is the harsh reality that most people affected with Progeria live a painful, and unfulfilling

Show More
Related

Summary Of Ricki Lewis The Forever Fix

630 Words | 3 Pages

The Forever Fix, a novel by geneticist and text book author Ricki Lewis, gives an incredibly in depth look into gene therapy and the children whose lives it changed. Gene therapy is the insertion of correct and functioning DNA into a genetically diseased patient, who is typically missing an enzyme or protein due to their genetic code. Before sharing the successful stories of gene therapy, Lewis first tells about Jesse Gelsinger’s story perhaps to show how far gene therapy has progressed. Jesse Gelsinger was born in 1981, and was an overall healthy baby despite his eating habits.

Read More

Sanfilippo Syndrome Research Paper

870 Words | 4 Pages

It is an autosomal recessive lysosomal storage disease (metabolism disorder passed down through families) caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate which is found in the extra-cellular matrix and on cell surface glycoproteins. It makes the body unable to properly break down the heparin sulfate sugar chain. The incompletely broken down heparan sulfate remains stored inside cells in the body and begins to build up, causing progressive damage. There are four types of sanflippo syndrome based on the defective gene that encode for the enzyme. Sanfilippo type A: A person does not have a normal working form of the enzyme called heparan N-sulfatase, Sanfilippo type B: Occurs when a person

Read More

Cache Level 3 Unit 2 Research Paper

144 Words | 1 Pages

Pregnancy - when the mother had sickness or neglect during pregnancy (taking alcohol and etc) it can impact on the later child development. It is important that during pregnancy that necessary pregnancy support and care is provided. There is some medical condition like preeclamsia can cause premature birth and may lead to blindness and deafness and later in life will affect the child 's ability to learn or learn quickly. 2. Accidents and illness - some illnesses has effect on child 's ability to learn, by taking some medications that has side effects can affects child 's learning process later in life.

Read More

Noonan Syndrome Research Paper

733 Words | 3 Pages

Noonan Syndrome Having a family member or child with an uncommon condition can be pretty extreme. When it comes to these conditions, they are usually some sort of mutation or run in the family 's genetics. Noonan Syndrome is a rare condition that affects an individual 's physical appearance, mental state, and genetic makeup, but varies in each affected person. In 1963, Noonan Syndrome was first described by a heart-specialist, Jacqueline Noonan.

Read More

Tay Sachs Research Paper

480 Words | 2 Pages

Tay-Sachs is a rare, inherited, metabolic disease that is caused by a defective gene on chromosome 15. This defect causes the body to not make a protein called hexosaminidase which leads to chemicals building up. These chemicals destroy the nerve cells in the brain and the spinal cord. Tay-Sachs is also called GM2 gangliosidosis, HexA deficiency, Hexosaminidase A deficiency, and Hexosaminidase alpha-subunit deficiency. Tay-Sachs is most common in infants and children.

Read More

Constitutional Growth Delay Essay

386 Words | 2 Pages

It often occurs in children who have one or both parents who were also slow to develop. SYMPTOMS Children with CGD tend to be a bit short in early childhood, but they grow at a normal rate. They do not have the rapid growth spurt of adolescence when other children their age do. They continue to grow but at a slow rate. They also do not show signs of puberty until later.

Read More

The Mindets Of The Colonists Leading Up To The American Revolution

1138 Words | 5 Pages

The mindsets of the British government and the American colonists differed greatly leading up to the American Revolution because of Britain's need to recoup some of their losses from previous wars and the cost of keeping up their vast empire. The colonist’s mindset leading up to the American Revolution was that the British had taxes on everything and the colonists felt that they did not need the British government to meddle in their affairs. This lead to popular resistance from the colonists and the eventual start of the American Revolution. Before the American Revolution, the Seven Years’ War was the cause of significant debt for the British.

Read More

Tub's Effect On Frank And Kenny

279 Words | 2 Pages

The cold and snowy temperatures allow for Frank and Kenny to ditch Tub and leave him for death. It is evident that in the beginning of the story that Frank and Kenny do not appreciate Tub. It seemed as if they wanted to leave Tub to die, the heavy snow kept Tub from catching up.

Read More

How Pku Affects Child Development

962 Words | 4 Pages

This will affect their intellectual development as they may struggle with processing information. PKU can also affect their emotional development as people with PKU can often develop depression, anxiety disorders, phobias and develop low self-esteem. This will affect their emotional and social development as if they have depression and have anxiety disorders they may not want to go out and socialise with friends. People with PKU also may not want to socialise with friends and tell their friends that have PKU as they may be

Read More

How To Cyp Core 3.2 Health And Social Care Level 3

321 Words | 2 Pages

They may also isolate themselves from their peers and adults that they may have had an attachment to. This can impact many development areas such as speech, communication and language. This may then create an atypical development that the child may face, meaning that they lack in learning compared to their peers in areas such as their self care, if their role models (the mother) are not providing an 'example' that they can learn

Read More

Birth-19 Questions And Answers

8617 Words | 35 Pages

It will depend on the type of disability that the child has. They may have a hearing or seeing impairment or a physical or learning disability. Children or young people may be subjected to prejudice or discrimination which could lead to them being bullied or treated differently, this in turn could affect their learning skills, self confidence and development. In the past the medical model of disability meant that opportunities for learning and development where few and far between. Today there is a different approach to disabilities and most settings look at different ways in which they can help with learning and development and to give children as many opportunities as possible.

Read More

Essay On Klinefelter Syndrome

1013 Words | 5 Pages

Klinefelter syndrome is a chromosomal mutation due to the extra sex chromosome. It is a chromosomal disorder but is still due to the fact that it is random event. GENETICS OF THE DISEASE The additional X chromosome I found with the other two sex chromosomes making it a total of 47 chromosomes instead of 46 which leads to the male child's hormonal and sexual related abnormalities as the grow up. Klinefelter syndrome can be diagnosed through a physical examination, chromosome analysis, blood test and semen

Read More

Sequence Of Development Sequence

1116 Words | 5 Pages

They will need extra support in daily activities. Such illness also have different facial characteristics which can lead to bullying. When condition involves frequent absence from school due to hospital visits, children could miss school lesson, make it harder to learn the required material and fall behind in academic development. Some children

Read More

Short And Long Term Effects Of Transition Essay

1305 Words | 6 Pages

There can be positive as well as negative effects. There can also be short term or long term effects depending on the individual child and how effectively they are supported. Short terms effects on children in times of transitioning can include:- • Regression – if a child struggles to cope with a transition they may revert to the earlier stages of development. • Physical well-being – in the short term a child’s physical well-being may be effected as their immune system is not as effective as fighting illness.

Read More

Thesis On Down Syndrome

905 Words | 4 Pages

Some DS kids continue to live at home and are able to hold jobs just like anybody else. They still are successful individuals in communities. Conclusion: Down syndrome is a wide range of development delays and physical disabilities caused by a genetic

Read More

More about Essay On Progeria

Related Topics

Open Document